Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Perinatal/Neonatal Case Presentation
  • Published:

Perinatal/Neonatal Case Presentation

Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is a common inherited disorder. Ultrasound (US) findings can include enlarged echogenic kidneys in utero and cysts in multiple organs in adults. Though a highly penetrant disease, due to varied clinical expression and the typical late onset of symptoms, reproductive-aged women may not know their carrier status. We present two cases in which fetal US findings suggested ADPKD and additional evaluation identified likely maternal ADPKD as well.

This is a preview of subscription content, access via your institution

Access options

Buy this article

Prices may be subject to local taxes which are calculated during checkout

Figure 1
Figure 2

Similar content being viewed by others

References

  1. Gabow P . Autosomal dominant polycystic kidney disease. N Engl J Med 1993; 329: 332–342.

    Article  CAS  Google Scholar 

  2. Torres VE, Harris PC, Pirson Y . Autosomal dominant polycystic kidney disease. Lancet 2007; 369: 1287–1301.

    Article  Google Scholar 

  3. Chapman AB . Autosomal dominant polycystic kidney disease: time for a change? J Am Soc Nephrol 2007; 18: 1399–1407.

    Article  CAS  Google Scholar 

  4. Boyer O, Gagnadoux M-F, Guest G, Biebuyck N, Charbit M, Salomon R et al. Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth. Pediatr Nephrol 2007; 22: 380–388.

    Article  Google Scholar 

  5. Brun M, Maugey-Laulom B, Eurin D, Didier F, Avni EF . Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol 2004; 24: 55–61.

    Article  CAS  Google Scholar 

  6. Reuss A, Wladimiroff J, Stewart P, Niermeijer M . Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol 1990; 16: 355–359.

    Article  CAS  Google Scholar 

  7. Vora N, Perrone R, Bianchi DW . Reproductive issues for adults with autosomal dominant polycystic kidney disease. Am J Kidney Dis 2008; 51: 307–318.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to A G Euser.

Ethics declarations

Competing interests

The authors declare no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Euser, A., Sung, J. & Reeves, S. Fetal imaging prompts maternal diagnosis: autosomal dominant polycystic kidney disease. J Perinatol 35, 537–538 (2015). https://doi.org/10.1038/jp.2015.50

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/jp.2015.50

Search

Quick links